Aneuploidy - ib tug ... Aneuploidy: hauj lwm, ua rau, cov tsos mob, thiab cov hauv daim ntawv ntawm kev kho mob

Aneuploidy - ib tug kev tshuaj ntsuam genetic teeb meem nyob rau hauv uas lub cev hlwb muaj ib qho txawv txav tooj ntawm chromosomes. Yog xav paub ntxiv txog yuav ua li cas qhia nws aneuploidy thiab dab tsi yog nws ua, luv luv tsom xam cov qauv ntawm ib tug nyob ntawm tes, lub cell nucleus thiab cov chromosomes lawv tus kheej.

Ib me ntsis ntawm kev tshawb xav

Raws li koj paub, nyob rau hauv txhua txhua Somatic cell ntawm tib neeg lub cev yog ib txwm 46 chromosomes, uas yog diploid. Tsuas yog nyob rau hauv kab hlwb, qhov no ib txheej. Chromosomes nyob rau hauv lub cell nucleus thiab yog ntev, skompaktizovannuyu DNA helix. DNA, nyob rau hauv lem, yog ua los ntawm monomers - polypeptides. Tej yam polypeptide ib theem zuj zus teev noob - ntxwv chav tsev ntawm caj. DNA muaj tag nrho cov kev tshuaj ntsuam genetic kev pab cuam ntawm txoj kev loj hlob ntawm tus kab mob.

Nyob rau hauv nonsexual hlwb txhua chromosome yog homologous muam chromosomes zoo heev, tab sis tsis zoo tib yam rau cov thawj. Thaum lub sij hawm meiosis lub chromosomes pauv seem. Qhov no tshwm sim yog hu ua "crossover." Cov raug rho tawm chromosome ntev thiab luv luv caj npab.

chromosome set

Teeb ntawm chromosomes ntawm ib tug kab mob no yog hu ua ib tug karyotype. Feem ntau, ib tug neeg, raws li tau hais tias, tus karyotype yog hais 46 chromosomes, 23 los ntawm txhua tus niam txiv, tab sis pom ib anomaly nyob rau hauv uas lub karyotype yog sawv cev txawv. Qhov no txhaum yog hu ua "aneuploidy".

Aneuploidy - ib yam ntawm cov karyotype nyob rau hauv uas lub xov tooj ntawm chromosomes yog tsis sib npaug zos rau lub cev. Aneuploidy ntawm chromosomes, nyob rau hauv uas tsis muaj ib tug chromosome no yog hu ua monosomy. Yog hais tias muaj yog tsis muaj zog - nullisomiey. Yog hais tias, tsis txhob siv lub qub khub ntawm homologous chromosomes nyob rau hauv lub karyotype tshwm peb homologous, qhov no trisomy. Tej kev hloov nyob rau hauv lub xov tooj ntawm chromosomes ua mob loj heev kev loj hlob kev ntshawv siab. Ib txhia ntawm lawv tej zaum yuav tuag.

Aneuploidy nonsexual chromosomes (autosomes)

Muaj ntau ntau caj ces cov kab mob uas ua rau nws aneuploidy. Piv txwv li cov kab mob - Down syndrome, Patau syndrome, Edwards Syndrome. Tag nrho cov kab mob no tshwm sim los ntawm qhov kuaj pom ntawm ib tug ntxiv chromosome nyob rau hauv txawv officers ntawm homologous. Down syndrome - lub feem ntau ntawm cov kab mob. Nws manifests nws tus kheej kev puas hlwb ruamqauj, puas nyob rau hauv kev sib txuas lus, kev kawm los xij.

Txawm li cas los, trisomy ntawm chromosome 21, uas ua rau tus kab mob no, muaj tsis muaj cov nyhuv rau lub neej expectancy. Cov chav kawm nyob rau hauv ib qho kev kawm yuav pab tau cov neeg mob cuag ib txhia kawm tau zoo nyob rau hauv kev kawm thiab kev socialization.

Lwm tus kab mob, Patau syndrome, kuj ua rau aneuploidy. Qhov no mob loj heev kev ua txhaum - qhov tshwm sim ntawm trisomy ntawm lub 13th chromosome. Cov neeg mob tsis tshua ciaj sia mus rau 10 xyoo, ntau tshaj li 80% tuag nyob rau hauv thawj xyoo ntawm lub neej, rau lwm tus neeg raug kev txom nyem los ntawm sab kev muaj hlwb ruamqauj. Nyob rau hauv cov me nyuam nrog Patau syndrome qhia microcephaly, feem ntau muaj lub plawv muaj teeb meem, corneal clouding, phua palate, pob ntseg dog dig deformed.

Lub ntsiab ua lub syndrome Edwards yog tseem aneuploidy - trisomy ntawm chromosome 18. Ntau tshaj 90% ntawm cov me nyuam nrog tus kab mob no tuag los ntawm lub plawv tsis ua hauj lwm nyob rau hauv thawj xyoo ntawm lub neej, rau lwm tus neeg raug kev txom nyem los ntawm sab kev puas siab puas ntsws ruamqauj thiab yuav luag uneducable.

Trisomy 16 chromosome yog ntau tshaj li lwm yam aneuploidy. Qhov no kev tshuaj ntsuam genetic teeb meem yog tuag, lub fetus tuag nyob rau hauv lub plab thaum lub sij hawm thawj peb lub hlis uas cev xeeb tub.

Aneuploidy nyob rau hauv tib neeg tej zaum yuav tshwm sim ib tug tsawg caj kab mob - Varkani syndrome, trisomy ntawm chromosome 8. Lub ntsiab mob - hlwb ruamqauj, lub plawv tsis xws luag, skeletal anomalies.

Aneuploidy pw ua niam txiv chromosomes

Hom aneuploidy, uas tsis yeej ib txwm ua rau loj txim - rau trisomy X chromosome. Xws li ib tug ua txhaum tsuas yog rau cov poj niam. Trisomy X-chromosome yog tus heev - thaum 0.1% ntawm cov poj niam. Tus kab mob tej zaum yuav tsis tshwm sim thoob plaws lub neej, uas tshwm sim nyob rau hauv hais txog 30% ntawm cov neeg. Rau cov seem 70% paj laum yog tsiag ntawv los ntawm cov nram qab no cov tsos mob: dyslexia, agraphia, hais lus, thiab txav kev ntshawv siab. Hos nyob rau hauv xws li mob, symptomatic kev kho mob no zoo heev thiab yuav pab tau lig los yog cov tua cov tsos mob.

Lwm yam anomalies txuam nrog tus xov tooj ntawm tus txiv neej pw chromosomes, yog nyob deb heev dua cov loj. Cov no muaj xws Shereshevskoro syndrome - Turner, ib tug tshwj xeeb cov ntaub ntawv ntawm aneuploidy, nyob rau hauv uas nyob rau hauv lub karyotype cov poj niam - tsuas yog ib X chromosome es tsis txhob ntawm lub cev ob tug. Cov tsos mob - hlwb ruamqauj, luv luv stature, impaired kev loj hlob ntawm lub qhov chaw mos kabmob muaj peev xwm ua tau ib tug me me daim ntawv ntawm kev puas hlwb ruamqauj.

Yog lwm tug kab mob loj, uas yog tshwm sim los ntawm aneuploidy. Nws Klinefelter syndrome - lub xub ntiag ntawm ib los yog ntau tshaj ntxiv X los yog Y chromosomes nyob rau hauv cov txiv neej. Cov tsos mob tsis tshwm sim txog rau thaum pib ntawm tiav nkauj tiav nraug. Yuav luag ib nrab ntawm cov neeg mob tsis muaj cov tsos mob thoob plaws hauv lawv lub neej, hos lwm cov neeg cai gynecomastia, rog, ntxiv lawm tshob. Nyob rau hauv tsawg zaus, muaj kev puas hlwb ruamqauj.

Cov ua rau aneuploidy

Aneuploidy tshwm sim vim lub fact tias thaum lub sij hawm meiosis lub homologous chromosomes tsis phua li, thiab es tsis txhob ntawm ib tug nyob rau hauv lub gamete ntaus ib tug khub ntawm chromosomes, los yog tau tsis tau txais tsis muaj leej twg. Yog hais tias ib tug gamete qub naj npawb ntawm cov chromosomes, thiab lwm yam - qhov txawv txav, qhov txawv txav karyotype zygote yuav.

Undivided homologous chromosomes yuav ua tau vim unfavorable tej yam kev mob, raug tus kab mob rau tej co toxins ntawm cov xwm sib txawv. Tiam sis feem ntau yog vim li cas yog caj: nyob rau hauv tsev neeg uas muaj mob ntawm aneuploidy, txoj kev pheej hmoo ntawm muaj ib tug me nyuam nrog ib tug txawv txav karyotype yog siab tshaj uas ntawm kev noj qab nyob cov niam cov txiv.

zaus

Peb yuav hais tias tej uas yuav muaj ntawm chromosomal aneuploidy-kab mob nyob rau nruab nrab uas tsis muaj, txij thaum tag nrho cov kev tshuaj ntsuam genetic kab mob yog dej num raws li tsis tshua muaj. Zuag qhia tag nrho yuav muaj ib tug me nyuam nrog ib tug abnormality karyotype yoojyim 5% yog leej niam leej txiv yog noj qab nyob zoo. Yog hais tias ib tug niam txiv muaj tej yam txawv txav karyotype, qhov tshwm sim rau ib tug neeg muaj mob tus me nyuam yug yuav tsub kom.

aneuploidies zaus nyob rau hauv lub chromosome. Cov feem ntau abnormality karyotype - Klinefelter lub syndrome, chromosome aneuploidy pw ua ke, zaus ntawm 1 nyob rau hauv 500 tus me nyuam mos cov tub hluas, feem ntau tsawg - Varkani syndrome, aneuploidy ntawm chromosome 8, lub zaus ntawm 1:50 000.

kev kho mob

aneuploidies kev kho mob yog ib txwm symptomatic. Thaum Shereshevscky syndrome - Turner hais tias tsis muaj txoj kev loj hlob thiab ib tug tsis muaj poj niam txiv neej cov tshuaj hormones, vim hais tias cov kev kho mob siv anabolic steroids.

Down syndrome kev kho mob yog txo mus rau kev tshawb fawb uas cov neeg mob uas tshwj xeeb cov kev pab cuam aimed ntawm txoj kev loj hlob ntawm kev txawj ntse muaj peev xwm.

Cov neeg mob nrog cov syndrome Varkani tsis tshua nyob mus txog 20 xyoo. Thaum lub sij hawm, tshiab anatomical hloov, hnyav hlwb ruamqauj. Yog hais tias tsim nyog, resort rau kev phais los kho tus mob thiab kev kho mob ntawm cov nqaj qaum contractures.

Yog hais tias cov ntxhais nrog trisomy X-chromosome yog ncua sij hawm ntawm kev hais lus txoj kev loj hlob, tej zaum yuav tau mus tham ib tug hais lus kws kho mob. Nyob rau hauv cov ntaub ntawv ntawm cov teeb meem nrog kev sau ntawv thiab nyeem ntawv yuav tsum saib ib tug kws dyslexia.

Klinefelter syndrome yeej tsis muaj feem xyuam rau qhov zoo ntawm lub neej rau cov neeg mob. Nyob rau hauv tsawg zaus, muaj kev puas hlwb ruamqauj. Nyob ntawm seb nws degree (me ntsis, hauj sim, loj), ib tug neeg qhov kev pab cuam ntawm txoj kev tshawb. Yog hais tias manifest gynecomastia, tsis kev sib deev muaj nuj nqi, ntxiv lawm tshob, ces resorted mus rau lawm txoj kev kho.

diagnostics

Qhia me nyuam hauv plab genetic cov kab mob yuav tsum siv ib tug ntau yam ntawm txoj kev (ultrasound xeem, biochemical markers txujci).

Nrog kev pab los ntawm ultrasound yuav qhia lub fetus Down syndrome nyob rau ntawm ib thaum ntxov rau theem ntawm kev loj hlob.

Tsis-invasive prenatal mob ntawm aneuploidy yog ib tug muaj kev ruaj ntseg thiab yog txoj kev txiav txim tau karyotype txawv txav. Cov qauv no yog yooj yim - ib tug kws tshuaj xyuas DNA tawg tsam ntawm ib tug me nyuam nyob rau hauv leej niam lub ntshav. Tus mob ntawm aneuploidy yog ntau yog, tab sis nws yog tus uas yuav muaj tshwm sim rho menyuam, resort rau nws xwb nyob rau hauv huab mob.

Yam uas ua rau kom cov ntxim yuav zoo siv ntawm aneuploidy

Tsis ntev los no kev tshawb fawb tau qhov tseeb hais tias muaj yog ib tug meej correlation ntawm niam muaj hnub nyoog thiab qhov yuav tshwm ntawm muaj ib tug me nyuam nrog Down syndrome, syndrome Patau lub syndrome los yog Edwards. Cov laus tus poj niam, lub siab dua qhov tshwm sim rau cov me nyuam yug ntawm nws tus me nyuam nrog ib tug txawv txav karyotype.

Yuav ua li cas yam ua si ib qho tseem ceeb heev luag hauj lwm nyob rau hauv txoj kev loj hlob ntawm aneuploidy nrog txiv neej pw chromosomes yog tsis paub. Nws yog assumed tias lub ntsiab lub luag hauj lwm nyob rau hauv xws li mob belongs rau caj.